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CAG repeat variants in the POLG1 gene encoding mtDNA polymerase-gamma and risk of breast cancer in African-American women

Azrak, S and Ayyasamy, V and Zirpoli, G and Ambrosone, C and Bandera, EV and Bovbjerg, DH and Jandorf, L and Ciupak, G and Davis, W and Pawlish, KS and Liang, P and Singh, K (2012) CAG repeat variants in the POLG1 gene encoding mtDNA polymerase-gamma and risk of breast cancer in African-American women. PLoS ONE, 7 (1).

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Abstract

The DNA polymerase-gamma (POLG) gene, which encodes the catalytic subunit of enzyme responsible for directing mitochondrial DNA replication in humans, contains a polyglutamine tract encoded by CAG repeats of varying length. The length of the CAG repeat has been associated with the risk of testicular cancer, and other genomic variants that impact mitochondrial function have been linked to breast cancer risk in African-American (AA) women. We evaluated the potential role of germline POLG-CAG repeat variants in breast cancer risk in a sample of AA women (100 cases and 100 age-matched controls) who participated in the Women's Circle of Health Study, an ongoing multi-institutional, case-control study of breast cancer. Genotyping was done by fragment analysis in a blinded manner. Results from this small study suggest the possibility of an increased risk of breast cancer in women with minor CAG repeat variants of POLG, but no statistically significant differences in CAG repeat length were observed between cases and controls (multivariate-adjusted odds ratio 1.74; 95% CI, 0.49-6.21). Our study suggests that POLG-CAG repeat length is a potential risk factor for breast cancer that needs to be explored in larger population-based studies. © 2012 Azrak et al.


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Details

Item Type: Article
Status: Published
Creators/Authors:
CreatorsEmailPitt UsernameORCID
Azrak, S
Ayyasamy, V
Zirpoli, G
Ambrosone, C
Bandera, EV
Bovbjerg, DHdhb15@pitt.eduDHB15
Jandorf, L
Ciupak, G
Davis, W
Pawlish, KS
Liang, P
Singh, K
Contributors:
ContributionContributors NameEmailPitt UsernameORCID
EditorPandey, SiyaramUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Centers: Other Centers, Institutes, or Units > Pittsburgh Cancer Institute
Date: 20 January 2012
Date Type: Publication
Journal or Publication Title: PLoS ONE
Volume: 7
Number: 1
DOI or Unique Handle: 10.1371/journal.pone.0029548
Refereed: Yes
MeSH Headings: Adult; African Americans; Aged; Breast Neoplasms--genetics; Case-Control Studies; DNA, Mitochondrial--genetics; DNA-Directed DNA Polymerase--genetics; Female; Genetic Predisposition to Disease--genetics; Germ-Line Mutation--genetics; Humans; Middle Aged; Risk Factors; Trinucleotide Repeats--genetics
Other ID: NLM PMC3262786
PubMed Central ID: PMC3262786
PubMed ID: 22276120
Date Deposited: 12 Sep 2012 21:54
Last Modified: 04 Feb 2019 15:59
URI: http://d-scholarship.pitt.edu/id/eprint/14016

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